Other terms
Erythropoietic Protoporphyrias,Protoporphyrias, Erythropoietic,Erythropoietic Protoporphyria,Ferrochelatase Deficiency,Deficiencies, Ferrochelatase,Deficiency, Ferrochelatase,Ferrochelatase Deficiencies,Heme Synthetase Deficiency,Deficiencies, Heme Synthetase,Deficiency, Heme Synthetase,Heme Synthetase Deficiencies,Synthetase Deficiencies, Heme,Synthetase Deficiency, Heme
Description
Protoporphyria, Erythropoietic: An autosomal dominant porphyria that is due to a deficiency of FERROCHELATASE (heme synthetase) in both the LIVER and the BONE MARROW, the last enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include mainly neurological symptoms, rarely cutaneous lesions, and elevated levels of protoporphyrin and COPROPORPHYRINS in the feces.
Pervious tree
Next tree
Other locations in tree
Legal notice
The U.S. National Library of Medicine is the creator, maintainer, and provider of the data above.
The version of the data is 2010 MeSH. Last reviewed April 26, 2010. No modification has been made in the content of the file.
Neither the United States Government, nor any of its agencies, contractors, subcontractors or employees makes any warranties, expressed or implied, with respect to data contained in the database, and, furthermore, assumes no legal liability for any party's use, or the results of such use, of any part of the database.
You will not assert any proprietary rights to any portion of the database, or represent the database or any part thereof to anyone as other than a United States Government database.
The MeSH data carry an international copyright outside the United States, its Territories or Possessions. These terms and conditions are in effect as long as the user retains any of the MeSH data obtained from this site.